IRF8 gene related symptoms and diseases
All the information presented here about the IRF8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IRF8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Immunodeficiency | Very Common - Between 80% and 100% cases |
| Fever | Very Common - Between 80% and 100% cases |
| Recurrent infections | Very Common - Between 80% and 100% cases |
| Lymphadenopathy | Very Common - Between 80% and 100% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IRF8 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Respiratory tract infection
- Chronic infection
- Recurrent sinusitis
- Recurrent pneumonia
- Sinusitis
- Bronchiectasis
- Lymphoma
- Hepatic failure
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IRF8 gene
Here you will find a list of rare diseases related to the IRF8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME
Alternate names
CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive, epstein-barr virus, susceptibility to chronic infection by, immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive, caebv syndrome, chronic ebv infection syndrome
Description
Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.
Most common symptoms of CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME
- Global developmental delay
- Neoplasm
- Failure to thrive
- Anemia
- Hepatomegaly
More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME
MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY
Alternate names
MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency, msmd due to partial irf8 deficiency, irf8 deficiency, autosomal dominant, mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency, immunodeficie
Description
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..
Most common symptoms of MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY
- Fever
- Immunodeficiency
- Recurrent infections
- Lymphadenopathy
- Abnormality of immune system physiology
More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY
Search interest in IRF8
Potential gene panels for IRF8 gene
Immunodeficiency type 32A, mycobacteriosis, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IRF8 gene.
More info about this panel Germany.
Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IRF8 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Defects of phagocytosis Panel Panel
Germany.
By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
More info about this panel Germany.
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel
United States.
By Invitae Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 STAT2 ACP5 TYK2 SAMHD1 IRAK4 ADAR CYBB ISG15 GATA2
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
IRF8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IRF8 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
Focus::Lymphoma™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
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